Mixed connective tissue disease

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Mixed connective tissue disease
Classification and external resources
Mixed Connective Tissue Disease (MCTD) Awareness Ribbon.png
Mixed Connective Tissue Disease (MCTD) Awareness Ribbon
ICD-10 M35.1
ICD-9 710.8
DiseasesDB 8312
eMedicine med/3417
MeSH D008947

In medicine, mixed connective tissue disease (also known as Sharp's syndrome[1]), commonly abbreviated as MCTD, is an autoimmune disease, in which the body's defense system attacks itself. It was characterized in 1972,[2] and the term was introduced by Leroy[3] in 1980.[4]

It is sometimes equated with the term "Undifferentiated connective tissue disease",[1]) but some sources specifically reject such assertions of equivalence.[5]

Signs and symptoms[edit]

MCTD combines features of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid arthritis[6] (with some sources adding polymyositis, dermatomyositis, and inclusion body myositis)[7] and is thus considered an overlap syndrome.

MCTD commonly causes:

Diagnosis[edit]

Distinguishing laboratory characteristics are a positive, speckled anti-nuclear antibody and an anti-U1-RNP antibody.[8][9]

Cause[edit]

It has been associated with HLA-DR4.[10]

Prognosis[edit]

The prognosis of mixed connective tissue disease is in most cases worse than that of systemic lupus erythematosus (SLE) in spite of prednisone treatment as this disease is progressive and may in many cases evolve into a progressive systemic sclerosis (PSS), also referred to as diffuse cutaneous systemic scleroderma (dcSSc) which has a poor outcome. In some cases though the disease is mild and may only need aspirin as a treatment and may go into remission where no Anti-U1-RNP antibodies are detected, but that is rare or within 30% of cases.

Most deaths from MCTD are due to heart failure caused by Pulmonary Arterial Hypertension (PAH).

See also[edit]

References[edit]

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR (February 1972). "Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA)". Am. J. Med. 52 (2): 148–59. doi:10.1016/0002-9343(72)90064-2. PMID 4621694. 
  3. ^ George C. Tsokos; Caroline Gordon; Josef S. Smolen (2007). Systemic lupus erythematosus: a companion to Rheumatology. Elsevier Health Sciences. pp. 429–. ISBN 978-0-323-04434-9. Retrieved 26 June 2010. 
  4. ^ LeRoy EC, Maricq HR, Kahaleh MB (March 1980). "Undifferentiated connective tissue syndromes". Arthritis Rheum. 23 (3): 341–3. doi:10.1002/art.1780230312. PMID 7362686. 
  5. ^ John Stone (1 June 2009). Pearls & Myths in Rheumatology. Springer. pp. 169–. ISBN 978-1-84800-933-2. Retrieved 26 June 2010. 
  6. ^ "mixed connective tissue disease" at Dorland's Medical Dictionary
  7. ^ "Mixed Connective Tissue Disease (MCTD): Autoimmune Disorders of Connective Tissue: Merck Manual Home Health Handbook". 
  8. ^ Venables PJ (2006). "Mixed connective tissue disease". Lupus 15 (3): 132–7. doi:10.1191/0961203306lu2283rr. PMID 16634365. 
  9. ^ Sato, T; Fujii, T; Yokoyama, T; Fujita, Y; Imura, Y; Yukawa, N; Kawabata, D; Nojima, T; Ohmura, K; Usui, T; Mimori, T (Dec 2010). "Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease.". Arthritis and rheumatism 62 (12): 3730–40. doi:10.1002/art.27700. PMID 20722023. 
  10. ^ Aringer M, Steiner G, Smolen JS (August 2005). "Does mixed connective tissue disease exist? Yes". Rheum. Dis. Clin. North Am. 31 (3): 411–20, v. doi:10.1016/j.rdc.2005.04.007. PMID 16084315. 

External links[edit]